Distress, uncertainty, and positive experiences associated with receiving information on personal genomic risk of melanoma

Abstract

The aim of this research was to understand how genomics-based personal melanoma risk information impacts psychological and emotional health outcomes in the general population. In a pilot randomized controlled trial, participants (n = 103) completed the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire, 3 months after receiving personal melanoma genomic risk information. Mean scores for MICRA items and subscales were stratified by genomic risk group (low, average, high), gender, education, age, and family history of melanoma. P values were obtained from t-tests and analysis of variance tests. We found that overall, participants (mean age: 53 years, range: 21-69; 52% female) had a total MICRA mean score of 18.6 (standard deviation: 11.1, range: 1-70; possible range: 0-105). The high genomic risk group had higher mean scores for the total (24.2, F = 6.7, P = 0.0019), distress (3.3, F = 9.4, P = 0.0002) and uncertainty (8.5, F = 6.5, P = 0.0021) subscales compared with average (17.6, 1.1, and 4.5, respectively) and low-risk groups (14.1, 0.5, and 2.5, respectively). Positive experiences scores were consistent across risk groups. In conclusion, MICRA scores for the total, distress and uncertainty subscales in our study were relatively low overall, but people who receive a high genomic risk result may benefit from increased support following testing.

Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma

“…We observed that patients who tested positive for a pathogenic variant had higher MICRA scores, indicating a higher level of distress, than those with negative or VUS genetic testing results, but this difference did not reach significance. The median scores of these test result groups are similar to those found in recent studies of breast cancer, ovarian cancer, and melanoma patient populations . Differences in the Uncertainty subscale score may provide further insight, because the patients who tested positive scored significantly higher in this domain, similar to interim results from a recent study of multiplex testing .…”

“…In prior studies of germline genetic testing in patients with cancer, only a small minority of patients have been shown to experience psychological distress after testing and, when present, these feelings do not persist long‐term . The Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire is a standardized tool that has identified sources of distress from genetic testing in both patients with cancer and other at‐risk groups in multiple studies …”

Exploring the emotional and behavioural reactions to receiving personalized melanoma genomic risk information: a qualitative study

“…We found that for some participants, high‐risk results or results higher than expected initially evoked emotions of disappointment, stress or worry, which dissipated over time. This finding provides context to the survey results from the parent trial, which found no evidence of increased skin cancer‐related worry or general psychological distress at the 3‐month follow‐up, but higher distress and uncertainty based on the Multidimensional Impact of Cancer Risk Assessment for participants who received a high‐risk result . Acute negative reactions that diminish over time have been commonly reported in individuals undergoing genetic testing, particularly for higher‐penetrance variants such as BRCA1 and BRCA2 .…”

“…This finding provides context to the survey results from the parent trial, which found no evidence of increased skin cancer-related worry or general psychological distress at the 3-month follow-up, 14 but higher distress and uncertainty based on the Multidimensional Impact of Cancer Risk Assessment for participants who received a high-risk result. 16 Acute negative reactions that diminish over time have been commonly reported in individuals undergoing genetic testing, particularly for higher-penetrance variants such as BRCA1 and BRCA2. 29,30 Our novel findings indicate that this emotional response may also be experienced by recipients of melanoma genomic risk information based on common variants with low-moderate penetrance, although our Multidimensional Impact of Cancer Risk Assessment survey results 16 suggest that this emotional response is lower than reactions to receiving higher-penetrance risk information.…”

“…16 Acute negative reactions that diminish over time have been commonly reported in individuals undergoing genetic testing, particularly for higher-penetrance variants such as BRCA1 and BRCA2. 29,30 Our novel findings indicate that this emotional response may also be experienced by recipients of melanoma genomic risk information based on common variants with low-moderate penetrance, although our Multidimensional Impact of Cancer Risk Assessment survey results 16 suggest that this emotional response is lower than reactions to receiving higher-penetrance risk information. Further research on pre-testing expectations of risk may assist in identifying those who may experience initial concern or distress.…”